ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2674977028
Gene:
Linked Data
gnomAD v4:
5-119452378-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.119452378C>T , CM000667.2:g.119452378C>T
GRCh38
NC_000005.9:g.118788073C>T , CM000667.1:g.118788073C>T
GRCh37
NC_000005.8:g.118815972C>T
NCBI36
NG_008182.1:g.4926C>T
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